| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.120739347C>T | CA252889 | ACADS | c.1138C>T (p.Arg380Trp) c.1126C>T (p.Arg376Trp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.120739347C>G | CA312236 | ACADS | c.1138C>G (p.Arg380Gly) c.1126C>G (p.Arg376Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.120739347C= | CA2067555821 | ACADS | c.1138C= (p.Arg380=) c.1126C= (p.Arg376=) | dbSNP |